Accurate human genome analysis with Element Avidity sequencing

Abstract excerpt

We investigate the new sequencing technology Avidity from Element Biosciences. We show that Element whole genome sequencing achieves higher mapping and variant calling accuracy compared to Illumina sequencing at the same coverage, with larger differences at lower coverages (20x-30x). We quantify base error rates of Element reads, finding lower error rates, especially in homopolymer and tandem repeat regions. We us...

Topics

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• Algorithms
• Alu Elements
• Chromosomes, Human, Pair 22
• Computational Biology
• Genome, Human
• Genotype
• Models, Genetic
• Sensitivity and Specificity

Identifiers and source

Literature Corpus work

9fe7ee5c-0656-5b88-8583-0433d577d2ee

DOI

10.1101/2023.08.11.553043